A2P (p.Ala2Pro) variant of ABCC1 (P33527)
A2P (p.Ala2Pro) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- gnomAD 16-15949755-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.16
- CADD 22.80
- PolyPhen-2 0.28
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available